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中国人群 TNF-α-3959T/C 基因多态性与颅内动脉瘤的相关性研究。

Association of TNF-α-3959T/C Gene Polymorphisms in the Chinese Population with Intracranial Aneurysms.

机构信息

Department of Neurosurgery, Renmin Hospital of Wuhan University, Wuhan, 430060, Hubei Province, People's Republic of China.

Department of Neurosurgery, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei Province, People's Republic of China.

出版信息

J Mol Neurosci. 2017 Dec;63(3-4):349-354. doi: 10.1007/s12031-017-0985-y. Epub 2017 Oct 13.

DOI:10.1007/s12031-017-0985-y
PMID:29027627
Abstract

Recent studies have demonstrated that cytokines play an important role in the pathogenesis of intracranial aneurysm (IA). Tumor necrosis factor-α (TNF-α) is an important proinflammatory cytokine, which was shown to influence the development of IA, but there is no research data from China. Hence, the purpose of this study was to explore the relationship between TNF-α polymorphisms and IA in China. The association of genetic variants of TNF-α gene expression was investigated in a Chinese population with IA. The TNF-α-3959T>C(rs1799964), 4127C>A(rs1800630), 4133C>T(rs1799724), 4184C>T(rs4248158), and 4752G>A(rs361525) gene polymorphisms in 192 IA cases and 112 controls were analyzed using polymerase chain reaction (PCR). Differences in genotype and allele frequencies between patients and controls were tested. There were no significant differences in 4127C>A (p = 0.072), 4133C>T (p = 0.373), 4184C>T (p = 0.749), and 4752G>A (p = 0.184) genotype frequencies between the IA group and the control group. But this case-control association study revealed that TNF-α-3959T>C (p < 0.001) was significantly associated with increased risk of IA. These results suggested that a novel TNF-α locus was found to be closely correlated with the occurrence of IA in Chinese.

摘要

最近的研究表明细胞因子在颅内动脉瘤(IA)的发病机制中起着重要作用。肿瘤坏死因子-α(TNF-α)是一种重要的促炎细胞因子,它被证明会影响 IA 的发展,但中国没有相关的研究数据。因此,本研究旨在探讨中国 TNF-α 多态性与 IA 之间的关系。研究人员在中国人群中研究了 TNF-α 基因表达的遗传变异与 IA 的关系。通过聚合酶链反应(PCR)分析了 192 例 IA 病例和 112 例对照中 TNF-α-3959T>C(rs1799964)、4127C>A(rs1800630)、4133C>T(rs1799724)、4184C>T(rs4248158)和 4752G>A(rs361525)基因多态性。检验了患者和对照组之间基因型和等位基因频率的差异。IA 组和对照组之间 4127C>A(p=0.072)、4133C>T(p=0.373)、4184C>T(p=0.749)和 4752G>A(p=0.184)基因型频率无显著差异。但这项病例对照关联研究表明,TNF-α-3959T>C(p<0.001)与 IA 风险增加显著相关。这些结果表明,一个新的 TNF-α 基因座被发现与中国人 IA 的发生密切相关。

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Pathogenesis of intracranial aneurysm is mediated by proinflammatory cytokine TNFA and IFNG and through stochastic regulation of IL10 and TGFB1 by comorbid factors.颅内动脉瘤的发病机制由促炎细胞因子肿瘤坏死因子α(TNFA)和干扰素γ(IFNG)介导,并通过合并症因素对白细胞介素10(IL10)和转化生长因子β1(TGFB1)的随机调节来实现。
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